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Human Reproduction, Vol. 15, No. 4, 929-934, April 2000
© 2000 European Society of Human Reproduction and Embryology

Rapid determination of zygosity and common aneuploidies from amniotic fluid cells using quantitative fluorescent polymerase chain reaction following genetic amniocentesis in multiple pregnancies

Chih-Ping Chen1,2,3, Schu-Rern Chern2 and Wayseen Wang2

1 Department of Obstetrics and Gynecology, Mackay Memorial Hospital and 2 Department of Medical Research, Mackay Memorial Hospital and National Yang-Ming University, Taipei, Taiwan, Republic of China

Following second-trimester twin amniocentesis, we used quantitative fluorescent polymerase chain reaction (QF-PCR) assays and polymorphic small tandem repeats (STR) for rapid determination of zygosity and common aneuploidies from amniotic fluid (AF) cells in four pregnancies with like-sex twins, fused placentae and inconclusive chorionicity. The first and the second cases were suspected to have inadvertent sampling of the same amniotic cavity twice. The first case showed a dizygotic (DZ) pattern and repeat amniocentesis was thus avoided. The second case was monozygotic (MZ) and was complicated by discordant fetal growth and twin–twin transfusion syndrome. The third case was associated with a co-twin malformation, occipital encephalocele. DNA studies revealed MZ twinning with a discordant structural defect. The fourth case was associated with co-twin abnormalities of cystic hygroma and hydrops fetalis. DNA studies showed DZ twinning with discordant structural and chromosomal defects. The QF-PCR assay with STR has the advantages of rapid determination of zygosity and common aneuploidies in AF cells. This simple test appears to be useful in the instances of possible inadvertent puncture of the same amniotic cavity twice during amniocentesis and of discordant fetal structural and/or chromosomal abnormalities following genetic amniocentesis in multiple pregnancies with uncertain chorionicity.

Key words: amniocentesis/aneuploidy/fluorescent polymerase chain reaction/twins/zygosity

3 To whom correspondence should be addressed at: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan, Republic of China


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 Mol Hum ReprodHome page
V. Cirigliano, M. Ejarque, M.P. Canadas, E. Lloveras, A. Plaja, M. del Mar Perez, C. Fuster, and J. Egozcue
Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies
Mol. Hum. Reprod., October 1, 2001; 7(10): 1001 - 1006.
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